Varaico: Literature-Extracted Genetic Variants

PSMD4

487 papers

RefSeq Summary

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identic...

Pfam Domains

VWA_2aa 6–116UCSCvon Willebrand factor type A domain

UIMaa 211–227UCSCUbiquitin interaction motif

UIMaa 282–298UCSCUbiquitin interaction motif

Gene Aliases

HGNC Name

proteasome 26S subunit ubiquitin receptor, non-ATPase 4

HGNC Alias Symbols

S5A; AF-1; AF; Rpn10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002810.4

p.A182T

c.544G>A

Surrounding Variants

2 papers

NM_002810.4

p.A180G

c.539C>G

1 paper

NM_002810.4

p.D181del1

c.541_543delGAT

1 paper

NM_002810.4

p.A180insFs

c.538_539ins7

1 paper

NM_002810.4

p.P177H

c.530C>A

1 paper

NM_002810.4

p.I188L

c.562A>C

1 paper

NM_002810.4

p.G191D

c.572G>A

3 papers

NM_002810.4

p.L170P

c.509T>C

1 paper

NM_002810.4

p.A195insFs

c.584_585insA

1 paper

NM_002810.4

p.A195A

c.585C>T

1 paper

NM_002810.4

p.M196I

c.588G>A

1 paper

NM_002810.4

p.M196I

c.588G>C

1 paper

NM_002810.4

p.M196I

c.588G>T